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Validation of Proposed DSM-5 Criteria for Autism Spectrum Disorder

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Objective

The primary aim of the present study was to evaluate the validity of proposed DSM-5 criteria for autism spectrum disorder (ASD).

Method

We analyzed symptoms from 14,744 siblings (8,911 ASD and 5,863 non-ASD) included in a national registry, the Interactive Autism Network. Youth 2 through 18 years of age were included if at least one child in the family was diagnosed with ASD. Caregivers reported symptoms using the Social Responsiveness Scale and the Social Communication Questionnaire. The structure of autism symptoms was examined using latent variable models that included categories, dimensions, or hybrid models specifying categories and subdimensions. Diagnostic efficiency statistics evaluated the proposed DSM-5 algorithm in identifying ASD.

Results

A hybrid model that included both a category (ASD versus non-ASD) and two symptom dimensions (social communication/interaction and restricted/repetitive behaviors) was more parsimonious than all other models and replicated across measures and subsamples. Empirical classifications from this hybrid model closely mirrored clinical ASD diagnoses (90% overlap), implying a broad ASD category distinct from non-ASD. DSM-5 criteria had superior specificity relative to DSM-IV-TR criteria (0.97 versus 0.86); however sensitivity was lower (0.81 versus 0.95). Relaxing DSM-5 criteria by requiring one less symptom criterion increased sensitivity (0.93 versus 0.81), with minimal reduction in specificity (0.95 versus 0.97).

Conclusions

Results supported the validity of proposed DSM-5 criteria for ASD as provided in Phase I Field Trials criteria. Increased specificity of DSM-5 relative to DSM-IV-TR may reduce false positive diagnoses, a particularly relevant consideration for low base rate clinical settings. Phase II testing of DSM-5 should consider a relaxed algorithm, without which as many as 12% of ASD-affected individuals, particularly females, will be missed. Relaxed DSM-5 criteria may improve identification of ASD, decreasing societal costs through appropriate early diagnosis and maximizing intervention resources.

Section snippets

Sample

Data were obtained from the Interactive Autism Network (IAN; www.ianproject.org), a U.S., Internet-based registry for families with one or more ASD-affected child (IAN Data Export ID: IAN_DATA_2010-07-06). Families were eligible for enrollment in IAN if the parent or legal guardian who provided information was English speaking, the family lived in the United States, and their child was diagnosed with an ASD by a professional. To be included in the present study, caregivers must have reported

Sample Characteristics

The total IAN sample included symptom data from 14,774 youth aged 2 to 18 years (8,911 ASD; 5,863 caregiver-designated non-ASD siblings) provided by 10,038 caregivers. There was a predominance of males with clinical ASD diagnoses (82.3%) and females in the sibling comparison group (53.9%), consistent with the sex ratio of autism. SRS data were available from 6,949 youth (4,248 ASD and 2,701 non-ASD siblings), and SCQ data were available from 14,200 youth (8,606 ASD and 5,594 non-ASD siblings),

Discussion

In this investigation, a hybrid model, closely matching proposed DSM-5 criteria for ASD, yielded the most parsimonious representation of autism symptoms. The model included both a categorical distinction between youth with and without ASD and dimensional representations of social communication and interaction difficulties and restricted, repetitive behavior. Sensitivity analyses supported this hybrid conceptualization of ASD with generalization across measurement scales and demographic

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    This publication was made possible by the Case Western Reserve University/Cleveland Clinic Clinical and Translational Grant Number UL1 RR024989 from the National Center for Research Resources. Autism Speaks provided support for the Interactive Autism Network project and Dr. Law. Funding from the National Institute of Child Health and Human Development Grant Number HD42541 supported Dr. Constantino's involvement. Dr. Eng is a Doris Duke Distinguished Clinical Scientist and holds the Sondra J. and Stephen R. Hardis Chair of Cancer Genomic Medicine at the Cleveland Clinic.

    Dr. Law designed and maintains the Interactive Autism Network registry. Drs. Frazier, Youngstrom, and Eng designed the present study. Dr. Frazier obtained funding to support analyses. Drs. Frazier, Youngstrom, Speer, Constantino, Findling, and Hardan, and Ms. Embacher supervised data interpretation of the study. Drs. Frazier and Ms. Embacher conducted data management and data analyses. All authors contributed to writing and revision.

    The authors gratefully acknowledge the efforts of families contributing to the Interactive Autism Network. Drs. Frazier and Youngstrom served as the statistical experts.

    Disclosure: Dr. Frazier has received federal funding or research support from, acted as a consultant to, or received travel support from Shire Development, Inc., Bristol-Myers Squibb, Integragen, the National Institutes of Health (NIH), and the Brain and Behavior Research Foundation. Dr. Youngstrom has received travel support from Bristol-Myers Squibb. Dr. Findling receives or has received research support, acted as a consultant to and/or served on a speakers' bureau for Abbott, Addrenex, AstraZeneca, Biovail, Bristol-Myers Squibb, Forest, GlaxoSmithKline, Johnson and Johnson, KemPharm, Eli Lilly and Co., Lundbeck, Merck, Neuropharm, Novartis, Noven, Organon, Otsuka, Pfizer, Rhodes Pharmaceuticals, Sanofi-Aventis, Schering-Plough, Seaside Therapeutics, Sepracore, Shire, Solvay, Sunovion, Supernus Pharmaceuticals, Transcept, Validus, and Wyeth. Dr. Constantino receives grant or research support from NIH, National Institute of Child Health and Human Development, the National Institute of Mental Health, the Department of Health and Human Services, Autism Speaks, and the Centers for Disease Control and Prevention. He receives royalties from Western Psychological Services for the commercial distribution of the Social Responsiveness Scale, one of the metrics used in this study; no royalties were generated by any of the assessments performed in the present research. Drs. Law, Speer, Eng, and Hardan, and Ms. Embacher report no biomedical financial interests or potential conflicts of interest.

    This article is discussed in an editorial by Dr. Bennett L. Leventhal on page 6.

    Supplemental material cited in this article is available online.

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